Canonical Allele Identifier: PA2499228391
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1157818
ClinVar RCV Id: RCV001500996 RCV002563334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro2089Thr
CA2379129
NM_000094.4:c.6265C>A